Canonical Allele Identifier: CA379782139
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393743T>C , CM000673.2:g.17393743T>C GRCh38
NC_000011.9:g.17415290T>C , CM000673.1:g.17415290T>C GRCh37
NC_000011.8:g.17371866T>C NCBI36
NG_008867.1:g.88160A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4163A>G
ENST00000526037.6:n.497A>G
ENST00000528374.2:c.1153A>G
ENST00000529967.6:n.2901A>G
ENST00000532220.2:n.3795A>G
ENST00000642611.2:n.5895A>G
ENST00000644057.2:n.1138A>G
ENST00000645004.2:n.2061A>G
ENST00000682051.1:n.4724A>G
ENST00000682110.1:n.4777A>G
ENST00000682140.1:c.*348A>G ENSP00000507829.1:n.*348A>G
ENST00000682185.1:n.5867A>G
ENST00000682204.1:c.*2700A>G ENSP00000507094.1:n.*2700A>G
ENST00000682215.1:n.5144A>G
ENST00000682288.1:c.*2993A>G ENSP00000507506.1:n.*2993A>G
ENST00000682442.1:n.4997A>G
ENST00000682528.1:n.4854A>G
ENST00000682673.1:n.4721A>G
ENST00000682805.1:n.5182A>G
ENST00000682965.1:c.*984A>G ENSP00000508229.1:n.*984A>G
ENST00000683093.1:n.5757A>G
ENST00000683136.1:c.4445A>G ENSP00000507768.1:p.Lys1482Arg
ENST00000683153.1:n.4819A>G
ENST00000683365.1:n.4879A>G
ENST00000683377.1:n.4673A>G
ENST00000683456.1:c.*1699A>G ENSP00000508318.1:n.*1699A>G
ENST00000683522.1:n.4859A>G
ENST00000683562.1:c.*2627A>G ENSP00000508265.1:n.*2627A>G
ENST00000683693.1:n.6238A>G
ENST00000683725.1:c.*27A>G ENSP00000507496.1:n.*27A>G
ENST00000684010.1:n.4772A>G
ENST00000684014.1:n.749A>G
ENST00000684157.1:n.5762A>G
ENST00000684253.1:n.4680A>G
ENST00000684288.1:c.*2734A>G ENSP00000507143.1:n.*2734A>G
ENST00000684313.1:n.4209A>G
ENST00000684332.1:n.4850A>G
ENST00000684371.1:n.4883A>G
ENST00000684404.1:n.5805A>G
ENST00000684442.1:n.5001A>G
ENST00000684555.1:c.*2774A>G ENSP00000507705.1:n.*2774A>G
ENST00000684571.1:c.4403A>G ENSP00000506935.1:p.Lys1468Arg
ENST00000684593.1:c.*4267A>G ENSP00000507005.1:n.*4267A>G
ENST00000684711.1:c.*2958A>G ENSP00000506841.1:n.*2958A>G
ENST00000302539.9:c.4565A>G ENSP00000303960.4:p.Lys1522Arg
ENST00000389817.8:c.4562A>G MANE Select ENSP00000374467.4:p.Lys1521Arg
ENST00000642271.1:c.4559A>G ENSP00000493749.1:p.Lys1520Arg
ENST00000642579.1:c.2616A>G
ENST00000642611.1:n.5780A>G
ENST00000642902.1:c.4344A>G
ENST00000643260.1:c.4562A>G ENSP00000494450.1:p.Lys1521Arg
ENST00000643562.1:c.*2684A>G ENSP00000496124.1:n.*2684A>G
ENST00000643925.1:c.3185+523A>G
ENST00000644057.1:n.721A>G
ENST00000644484.1:c.*3948A>G ENSP00000493558.1:n.*3948A>G
ENST00000644675.1:c.*2734A>G ENSP00000494567.1:n.*2734A>G
ENST00000644757.1:c.*3203-763A>G ENSP00000495085.1:n.*3203-763A>G
ENST00000644772.1:c.4628A>G ENSP00000494321.1:p.Lys1543Arg
ENST00000645004.1:n.2255A>G
ENST00000645076.1:c.3657A>G
ENST00000645417.1:c.1750A>G
ENST00000645744.1:c.*4247A>G ENSP00000494564.1:n.*4247A>G
ENST00000645760.1:c.4983A>G
ENST00000645884.1:c.*1845A>G ENSP00000495516.1:n.*1845A>G
ENST00000646003.1:c.*2584A>G ENSP00000495259.1:n.*2584A>G
ENST00000646207.1:c.*3399A>G ENSP00000495025.1:n.*3399A>G
ENST00000646276.1:c.*3966A>G ENSP00000496070.1:n.*3966A>G
ENST00000646592.1:c.3868A>G
ENST00000646902.1:c.4529A>G ENSP00000494101.1:p.Lys1510Arg
ENST00000646993.1:c.*3000A>G ENSP00000493720.1:n.*3000A>G
ENST00000647015.1:c.4313A>G ENSP00000495389.1:p.Lys1438Arg
ENST00000647086.1:c.*4148A>G ENSP00000493677.1:n.*4148A>G
ENST00000647158.1:c.*2849A>G ENSP00000495744.1:n.*2849A>G
ENST00000302539.8:c.4565A>G ENSP00000303960.4:p.Lys1522Arg
ENST00000389817.7:c.4562A>G ENSP00000374467.3:p.Lys1521Arg
ENST00000525022.1:n.457A>G
ENST00000526037.5:n.322A>G
ENST00000526168.5:c.350A>G
ENST00000531642.5:c.593A>G
NM_000352.4:c.4562A>G NP_000343.2:p.Lys1521Arg
NM_001287174.1:c.4565A>G NP_001274103.1:p.Lys1522Arg
XM_011520331.1:c.4562A>G XP_011518633.1:p.Lys1521Arg
XM_011520333.1:c.3062A>G XP_011518635.1:p.Lys1021Arg
XR_930890.1:n.4524A>G
NM_001351295.1:c.4628A>G NP_001338224.1:p.Lys1543Arg
NM_001351296.1:c.4562A>G NP_001338225.1:p.Lys1521Arg
NM_001351297.1:c.4559A>G NP_001338226.1:p.Lys1520Arg
NR_147094.1:n.4857A>G
XM_017018197.2:c.4631A>G XP_016873686.1:p.Lys1544Arg
XM_017018199.1:c.4628A>G XP_016873688.1:p.Lys1543Arg
XM_017018202.1:c.3128A>G XP_016873691.1:p.Lys1043Arg
XM_017018204.1:c.2519A>G XP_016873693.1:p.Lys840Arg
XM_024448668.1:c.2930A>G XP_024304436.1:p.Lys977Arg
XR_001747945.2:n.4599A>G
XR_001747946.2:n.4530A>G
XR_002957189.1:n.6313A>G
NM_000352.6:c.4562A>G MANE Select NP_000343.2:p.Lys1521Arg
NM_001287174.2:c.4565A>G NP_001274103.1:p.Lys1522Arg
NM_001351295.2:c.4628A>G NP_001338224.1:p.Lys1543Arg
NM_001351296.2:c.4562A>G NP_001338225.1:p.Lys1521Arg
NM_001351297.2:c.4559A>G NP_001338226.1:p.Lys1520Arg
NR_147094.2:n.4857A>G
NM_001287174.3:c.4565A>G NP_001274103.1:p.Lys1522Arg